Further evidence that a 100 Kb critical region is responsible for developmental delay, seizures, and dysmorphic features in 1q43q44 deletion patients

Speevak, Marsha D.; Zeesman, Susan; Leonard, Norma; Nowaczyk, M. J M

doi:10.1002/ajmg.a.35828

Cited by 4 publications

(5 citation statements)

References 8 publications

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“…These include AKT3, ADSS, CEP170, Clorf100, Clorf101, Clorf121, Clorf199, EFCAB2, FAM36A, HNRNPU, HNRNPU-AS1, PLD5, PNAS-4, and SDCCA8. 1, 3,[8][9][10][11][12][13][14] Specifically, ZBTB18 has repeatedly been identified as a strong candidate gene for microcephaly and/or ACC. 7,9,11,14,15 ZBTB18 is particularly compelling since a brain-specific knock-out of this gene in mice causes microcephaly and callosal anomalies.…”

Section: Introductionmentioning

confidence: 99%

A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome

et al. 2013

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Section: Introductionmentioning

confidence: 99%

A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome

et al. 2013

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“…Some studies have reported that AKT3, HNRNPU, and ZBTB18 are associated with the neurodevelopmental phenotype of the syndrome (Easton et al, 2005 ; Ballif et al, 2012 ; Thierry et al, 2012 ; Speevak et al, 2013 ). Easton et al described a study of AKT3 knockout mice (KO) for AKT3 which resulted in a reduction of brain volume and the size of the corpus callosum, which suggested that AKT3 may be a candidate gene for ACC/MIC (Easton et al, 2005 ; Raun et al, 2017 ).…”

Section: Discussionmentioning

confidence: 99%

Case Report: Identification of a de novo Microdeletion 1q44 in a Patient With Seizures and Developmental Delay

Tung

Lin

et al. 2021

Front. Genet.

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Objective: 1q44 microdeletion syndrome is difficult to diagnose due to the wide phenotypic spectrum and strong genetic heterogeneity. We explore the correlation between the chromosome microdeletions and phenotype in a child with 1q44 microdeletion syndrome, we collected the clinical features of the patient and combined them with adjacent copy number variation (CNV) regions previously reported.Methods: We collected the full medical history of the patient and summarized her clinical symptoms. Whole-exome sequencing (WES) and CapCNV analysis were performed with DNA extracted from both the patient's and her parents' peripheral blood samples. Fluorescent quantitative PCR (q-PCR) was performed for the use of verification to the CNV regions.Results: A 28.7 KB microdeletion was detected in the 1q44 region by whole-exome sequencing and low-depth whole-genome sequencing. The deleted region included the genes COX20 and HNRNPU. As verification, karyotype analysis showed no abnormality, and the results of qPCR were consistent with that of whole-exome sequencing and CapCNV analysis.Conclusion: The patient was diagnosed with 1q44 microdeletion syndrome with clinical and genetic analysis. Analyzing both whole-exome sequencing and CapCNV analysis can not only improve the diagnostic rate of clinically suspected syndromes that present with intellectual disability (ID) and multiple malformations but also support further study of the correlation between CNVs and clinical phenotypes. This study lays the foundation for the further study of the pathogenesis of complex diseases.

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“…Variability in the degree of microcephaly could be multifactorial, stemming from deletion sizes, genetic background, or sex and age‐dependent penetrance (Perlman, Kulkarni, Manwaring, & Shinawi, ). Recent reports have focused on linking microcephaly to specific genes within the 1q43‐q44 region (Ballif et al, ; Boland et al, ; Caliebe et al, ; de Munnik et al, ; Perlman et al, ; Speevak, Zeesman, Leonard, & Nowaczyk, ; Thierry et al, ; van Bon et al, ), however, the presence of microcephaly in patients without loss of expression of genes associated with microcephaly demonstrates the complexity of genotype–phenotype analysis in humans.…”

Section: Introductionmentioning

confidence: 99%

Quantitative phenotypic and network analysis of 1q44 microdeletion for microcephaly

Raun

Mailo

Spinelli

et al. 2017

American J of Med Genetics Pt A

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As genome wide techniques become more common, an increasing proportion of patients with intellectual disability (ID) are found to have genetic defects allowing genotype-phenotype correlations. Previously, AKT3 deletion was suggested to be responsible for microcephaly in patients with 1q43-q44 deletion syndrome, but this does not correspond to all cases. We report a case of a de novo 1q44 deletion in an 8-year-old boy with microcephaly in whom AKT3 is not deleted. We used a systematic review of the literature, our patient, and network analysis to gain a better understanding of the genetic basis of microcephaly in 1q deletion patients. Our analysis showed that while AKT3 deletion is associated with more severe (≤3 SD) microcephaly in 1q43-q44 deletion patients, other genes may contribute to microcephaly in AKT3 intact patients with microcephaly and 1q43-44 deletion syndrome. We identified a potential role for HNRNPU, SMYD3, NLRP3, and KIF26B in microcephaly. Overall, our study highlights the need for network analysis and quantitative measures reporting in the phenotypic analysis of a complex genetic syndrome related to copy number variation.

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Further evidence that a 100 Kb critical region is responsible for developmental delay, seizures, and dysmorphic features in 1q43q44 deletion patients

Cited by 4 publications

References 8 publications

A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome

A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome

Case Report: Identification of a de novo Microdeletion 1q44 in a Patient With Seizures and Developmental Delay

Quantitative phenotypic and network analysis of 1q44 microdeletion for microcephaly

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